Gene Symbol:
BTK
HGNC:1133
Locus Group:
protein-coding gene
Locus Type:
gene with protein product
Location:
Xq22.1
Filters:

Definitive classifications

Bruton-type agammaglobulinemia
XL
12/26/2018
Evaluated
10/13/2020
Submitted
Bruton-type agammaglobulinemia
XL
10/20/2020
Evaluated
04/21/2024
Submitted

Strong classifications

isolated growth hormone deficiency type III
Submitted as: OMIM:307200
XL
04/16/2021
Evaluated
11/30/2023
Submitted

Supportive classifications

Bruton-type agammaglobulinemia
Submitted as: Orphanet:47
XL
09/14/2021
Evaluated
09/14/2021
Submitted
short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia
Submitted as: Orphanet:632
XL
09/14/2021
Evaluated
09/14/2021
Submitted

Disputed Evidence classifications

isolated growth hormone deficiency type III
XL
11/17/2020
Evaluated
04/21/2024
Submitted

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